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    DDR2 discoidin domain receptor tyrosine kinase 2 [ Homo sapiens (human) ]

    Gene ID: 4921, updated on 5-Feb-2024

    Summary

    Official Symbol
    DDR2provided by HGNC
    Official Full Name
    discoidin domain receptor tyrosine kinase 2provided by HGNC
    Primary source
    HGNC:HGNC:2731
    See related
    Ensembl:ENSG00000162733 MIM:191311; AllianceGenome:HGNC:2731
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TKT; WRCN; MIG20a; NTRKR3; TYRO10
    Summary
    This gene encodes a member of the discoidin domain receptor subclass of the receptor tyrosine kinase (RTKs) protein family. RTKs play a key role in the communication of cells with their microenvironment. The encoded protein is a collagen-induced receptor that activates signal transduction pathways involved in cell adhesion, proliferation, and extracellular matrix remodeling. This protein is expressed in numerous cell types and may alos be involved in wound repair and regulate tumor growth and invasiveness. Mutations in this gene are the cause of short limb-hand type spondylometaepiphyseal dysplasia. [provided by RefSeq, Aug 2017]
    Expression
    Broad expression in fat (RPKM 30.2), adrenal (RPKM 24.5) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DDR2 in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (162630863..162787405)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (161974884..162131644)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (162600653..162757195)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1494 Neighboring gene UAP1 divergent transcript Neighboring gene UDP-N-acetylglucosamine pyrophosphorylase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2011 Neighboring gene Sharpr-MPRA regulatory region 4859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1495 Neighboring gene RNA, 7SL, cytoplasmic 861, pseudogene Neighboring gene MPRA-validated peak435 silencer Neighboring gene hydroxysteroid 17-beta dehydrogenase 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:162792375-162792980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2012 Neighboring gene Sharpr-MPRA regulatory region 14373 Neighboring gene coiled-coil domain containing 190

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables collagen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables collagen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine kinase collagen receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein tyrosine kinase collagen receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transmembrane receptor protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in biomineral tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to angiotensin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to transforming growth factor beta stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chondrocyte proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chondrocyte proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in collagen fibril organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in collagen-activated tyrosine kinase receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in endochondral bone growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of hydrogen peroxide-mediated programmed cell death IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in positive regulation of ERK1 and ERK2 cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of G1/S transition of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of collagen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of extracellular matrix disassembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of fibroblast migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of fibroblast migration TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of fibroblast proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of hepatic stellate cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of hepatic stellate cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of vascular associated smooth muscle cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of vascular associated smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of wound healing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of tissue remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to muscle stretch IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in transmembrane receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in focal adhesion HDA PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    discoidin domain-containing receptor 2
    Names
    CD167 antigen-like family member B
    cell migration-inducing protein 20
    discoidin domain receptor 2
    discoidin domain receptor family, member 2
    discoidin domain-containing receptor tyrosine kinase 2
    hydroxyaryl-protein kinase
    migration-inducing gene 16 protein
    neurotrophic tyrosine kinase receptor related 3
    receptor protein-tyrosine kinase TKT
    tyrosine-protein kinase TYRO10
    NP_001014796.1
    NP_001341911.1
    NP_001341912.1
    NP_006173.2
    XP_011507889.1
    XP_011507890.1
    XP_047277510.1
    XP_047277521.1
    XP_054192777.1
    XP_054192778.1
    XP_054192779.1
    XP_054192780.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016290.2 RefSeqGene

      Range
      6252..161193
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1390

    mRNA and Protein(s)

    1. NM_001014796.3NP_001014796.1  discoidin domain-containing receptor 2 precursor

      See identical proteins and their annotated locations for NP_001014796.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1-4 encode the same isoform.
      Source sequence(s)
      AL445197, AL596325, BC052998, BX537651, DA852104
      Consensus CDS
      CCDS1241.1
      UniProtKB/Swiss-Prot
      Q16832, Q7Z730
      UniProtKB/TrEMBL
      Q6MZT2
      Related
      ENSP00000356899.2, ENST00000367922.7
      Conserved Domains (2) summary
      cd00057
      Location:32184
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cd05095
      Location:557851
      PTKc_DDR2; Catalytic domain of the Protein Tyrosine Kinase, Discoidin Domain Receptor 2
    2. NM_001354982.2NP_001341911.1  discoidin domain-containing receptor 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same isoform.
      Source sequence(s)
      AL445197, AL596325, BX537651
      Consensus CDS
      CCDS1241.1
      UniProtKB/Swiss-Prot
      Q16832, Q7Z730
      UniProtKB/TrEMBL
      Q6MZT2
      Conserved Domains (2) summary
      cd00057
      Location:32184
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cd05095
      Location:557851
      PTKc_DDR2; Catalytic domain of the Protein Tyrosine Kinase, Discoidin Domain Receptor 2
    3. NM_001354983.2NP_001341912.1  discoidin domain-containing receptor 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same isoform.
      Source sequence(s)
      AL445197, AL596325, BX537651, DA919943
      Consensus CDS
      CCDS1241.1
      UniProtKB/Swiss-Prot
      Q16832, Q7Z730
      UniProtKB/TrEMBL
      Q6MZT2
      Related
      ENSP00000400309.2, ENST00000446985.6
      Conserved Domains (2) summary
      cd00057
      Location:32184
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cd05095
      Location:557851
      PTKc_DDR2; Catalytic domain of the Protein Tyrosine Kinase, Discoidin Domain Receptor 2
    4. NM_006182.4NP_006173.2  discoidin domain-containing receptor 2 precursor

      See identical proteins and their annotated locations for NP_006173.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same isoform.
      Source sequence(s)
      AK314388, AL445197, AL596325, BX537651, DA852104
      Consensus CDS
      CCDS1241.1
      UniProtKB/Swiss-Prot
      Q16832, Q7Z730
      UniProtKB/TrEMBL
      Q6MZT2
      Related
      ENSP00000356898.3, ENST00000367921.8
      Conserved Domains (2) summary
      cd00057
      Location:32184
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cd05095
      Location:557851
      PTKc_DDR2; Catalytic domain of the Protein Tyrosine Kinase, Discoidin Domain Receptor 2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      162630863..162787405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421554.1XP_047277510.1  discoidin domain-containing receptor 2 isoform X1

      UniProtKB/Swiss-Prot
      Q16832, Q7Z730
      UniProtKB/TrEMBL
      Q6MZT2
    2. XM_011509587.3XP_011507889.1  discoidin domain-containing receptor 2 isoform X1

      See identical proteins and their annotated locations for XP_011507889.1

      UniProtKB/Swiss-Prot
      Q16832, Q7Z730
      UniProtKB/TrEMBL
      Q6MZT2
      Conserved Domains (2) summary
      cd00057
      Location:32184
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cd05095
      Location:557851
      PTKc_DDR2; Catalytic domain of the Protein Tyrosine Kinase, Discoidin Domain Receptor 2
    3. XM_047421565.1XP_047277521.1  discoidin domain-containing receptor 2 isoform X2

      UniProtKB/TrEMBL
      Q6MZT2
    4. XM_011509588.4XP_011507890.1  discoidin domain-containing receptor 2 isoform X3

      Related
      ENST00000672207.1
      Conserved Domains (2) summary
      smart00231
      Location:30185
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      cd00057
      Location:32184
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      161974884..162131644
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336802.1XP_054192777.1  discoidin domain-containing receptor 2 isoform X1

      UniProtKB/Swiss-Prot
      Q16832, Q7Z730
      UniProtKB/TrEMBL
      Q6MZT2
    2. XM_054336803.1XP_054192778.1  discoidin domain-containing receptor 2 isoform X1

      UniProtKB/Swiss-Prot
      Q16832, Q7Z730
      UniProtKB/TrEMBL
      Q6MZT2
    3. XM_054336804.1XP_054192779.1  discoidin domain-containing receptor 2 isoform X2

      UniProtKB/TrEMBL
      Q6MZT2
    4. XM_054336805.1XP_054192780.1  discoidin domain-containing receptor 2 isoform X3